If you have problems viewing pdf files, download the. Little is known about its pathogenesis, except that the corticospinal axons degenerate, resulting in progressive weakness and spasticity of the. Before the advent of molecular genetic studies into these disorders, several classifications had been proposed, based on the mode of inheritance, the age of onset of symptoms. Paraplegia spastic flaccid paraplegia in extension paraplegia in flexion 4. Autosomal recessive spastic paraplegia type 49 genetic. Hereditary spastic paraplegia hsp is a heterogeneous group of neurodegenerative disorders characterized by a progressive gait disorder.
Spastic paraplegia 11 spg11 is a form of hereditary spastic paraplegia. The key clinical feature is slowly progressive pyramidal pattern of weakness1. Click on the link to view a sample search on this topic. Hereditary spastic paraplegia hsp describes a heterogeneous group of genetic neurodegenerative diseases characterised by progressive spasticity of the lower limbs.
Abstract hereditary spastic paraplegia hsp is a group of geneticallydetermined disorders characterized by progressive spasticity and weakness of lower limbs. These conditions vary in severity and include, from most severe to least, xlinked hydrocephalus with stenosis of the aqueduct of sylvius hsas, masa syndrome, spastic paraplegia type 1, and xlinked complicated corpus callosum agenesis. Hsp is a clinically and genetically heterogeneous disorder. Hereditary spastic paraplegia hsp is a group of inherited disorders characterized by progressive spastic paresis of the lower limbs. Hereditary spastic paraplegia information page national. Spg4 is characterized by slowly progressive muscle weakness and spasticity stiff or rigid muscles in the lower half of the body.
Pdf truncating mutations in ubap1 cause hereditary. Bladder dysfunction in hereditary spastic paraplegia. The patient was a 36yearold woman who was diagnosed with nmo and had difficulties in walking. Hereditary spastic paraplegia hsp or strumpelllorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4.
Hsp, also called familial spastic paraplegia, was initially referred to as strumpelllorrain disease, a name given for the. Ischemia of the spinal cord, from either damage or obstruction of the blood vessels supplying the lower portion of the spinal cord the posterior and anterior spinal arteries, can. The disease presents with progressive stiffness and contraction in the lower limbs. Hereditary spastic paraplegia genetic and rare diseases.
In spastic quadriplegia, all limbs are affected, the legs often more severely than the arms. Hereditary spastic paraplegia hsp is a group of neurogenetic disorders seen mainly in adults. Effect of vibration stimulation on dysbasia of spastic. Autosomal recessive spastic paraplegia type 23 spg23 is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities i. Rapidly deteriorating course in dutch hereditary spastic paraplegia.
Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles. Hereditary spastic paraplegias hsps are a group of clinically and genetically heterogeneous neurodegenerative disorders. Hereditary spastic paraplegia hsp is a diverse group of singlegene disorders characterized by retrograde degeneration of the long axonal fibers of the corticospinal tracts and posterior columns of the spinal cord. Background hereditary spastic paraplegia hsp comprises a group of rare neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the legs.
Pubmed is a searchable database of medical literature and lists journal articles that discuss autosomal recessive spastic paraplegia type 49. Hereditary spastic paraplegia hsp represents a highly heterogeneous group of complex neurological disorders involving multiple loci and causative genes. Spastic paraplegia, variably associated with cognitive decline, thin corpus callosum, upper extremity weakness, dysarthria and nystagmus 1% adhsp 8% adhsp 5% arhsp mutation frequency of 7. Disease onset ranges from infancy to older adulthood. Lack of cyp7b1 leads to an accumulation of its oxysterol substrates, in particular 25hydroxycholesterol and 27hydroxycholesterol that are able to cross the bloodbrain barrier and have. Inheritance and clinical features of each hsp form are described in table 2. Pdf clinical characteristics of taiwanese patients with. Proteolipid protein 1 and dm20 are primarily located in the brain and spinal cord central nervous system and are the main proteins found in myelin, the fatty covering that insulates nerve fibers. Spastic paraplegia is roughly defined as the weakness of the lower limbs accompanied by neurological deficits of the sensory, motor, and autonomic nervous system 1 2. Spastic paraplegia type 5 spg5 is a rare subtype of. Spastic paraplegia type 7 genetics home reference nih. Hereditary spastic paraplegia is a large group of degenerative, neurological disorders characterized by progressive lower limb spasticity and weakness.
Spastic paraplegia an overview sciencedirect topics. Spastic paraplegia 4 spg4 is the most common type of hereditary spastic paraplegia hsp inherited in an autosomal dominant manner. Experienced complaints, activity limitations and loss of motor. Objectiveto study whether clinical characteristics can differentiate sporadic presentations of hereditary spastic paraparesis hsp from primary lateral scleros. She had been born at a low birth weight and had spent 8 days in a special care baby unit. Hereditary spastic paraplegia hsp is a group of inherited diseases whose main feature is a progressive gait disorder. Important gene tests for hereditary spastic paraplegia. Hereditary spastic paraplegia hsp is a syndromic designation. Three forms of xlinked spastic paraplegia spg have been defined. Acute transverse myelitis traumatic paraplegia anterior spinal artery syndrome sub acute. The hereditary spastic paraplegias hsps are inherited neurologic disorders in. People with spg11 experience worsening muscle stiffness leading to eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms that may include intellectual disability, speech difficulties dysarthria, and reduced bladder control.
Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Differentiation of hereditary spastic paraparesis from primary. One locus spg 1 maps to xq28 while two clinically distinct forms map to xq22 spg2. Our aim was to investigate the genetic background and clinical phenotype of spastic paraplegia in large polish family. Her cognitive function had never been normal and her memory deteriorated over several years box 1.
Hereditary spastic paraplegia hsp, also called familial spastic paraparesis fsp, refers to a group of inherited disorders that are characterized by progressive weakness and spasticity stiffness of the legs. Their primary symptoms are progressive spasticity and weakness of the leg and hip muscles. Cases with coexisting spastic paraplegia and ataxia have been described as hereditary ataxia of the spastic type by bell and carmichael in their critical study of familial spastic paraplegia. Spastic quadriplegia an overview sciencedirect topics. An apparently sporadic case of adultonset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. Pdf hereditary spastic paraparesis hsp or the strumpelllorrain syndrome is. Hereditary spastic paraplegia hsp, spg loci, strumpelllorrain syndrome, pure and complex forms. Clinical characteristics of taiwanese patients with hereditary spastic paraplegia type 5. Spastic paraplegia is a large group of disorders that share the common characteristic of difficulty in walking due to muscle weakness and muscle tightness in the legs. Functional assessment of lower extremities in hereditary spastic. Case report on novel mutation in spast gene in polish.
Therapies generally focus on reducing muscle tone, maintaining or improving range of motion and mobility, increasing strength and coordination, and improving comfort. Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic paraplegias. Loss, osprey publishing aviation elite units oxford phrasal verbs dictionary pdf download 24 pdf paraplegia and paraparesis in that order were the common clinical features. Familial spastic paraplegia with amyotrophy, oligophrenia. Spastin gene mutation in japanese with hereditary spastic. Pure hereditary spastic paraplegia is the most common form of hereditary spastic paraplegia. Intrauterine disease, usually malformations, is the cause of most spastic quadriplegia.
Hereditary spastic paraplegias are divided into two types. Hereditary spastic paraplegia type 5 is a neurodegenerative disease caused by lossoffunction mutations in the cyp7b1 gene encoding the oxysterol 7. The performance of standing up and walking improved with vs. The spastic paraplegia foundation is dedicated to finding a cure for hereditary spastic. We analysed the effect of vibration stimulation vs on dysbasia of neuromyelitis optica nmo. Because the medical literature on hereditary spastic paraplegia hsp is dominated by descriptions of adult case series, there is less emphasis on the genetic evaluation in suspected pediatric cases of hsp. Hereditary spastic paraplegia hsp is a syndromic designation encompassing more than 30 disorders in which the predominant feature is spastic gait. Neurogenic bladder dysfunction is a well recognised problem in patients with hsp but it has not yet been described systematically in the literature.
Spastic paraplegia is caused by lesions affecting the upper motor neuron or axons originating from it in the corticospinal, also termed pyramidal, tract. Familial spastic paraplegia motor neuron disease toxic myelopathy. Hereditary spastic paraplegia hsp is a cluster of genetically heterogeneous disorders that has spastic paraplegia as the central feature. Although spg11 is the most common complicated hereditary spastic paraplegia, our knowledge of the longterm prognosis and life expectancy. Hypoxicischemic encephalopathy of the term newborn accounts for a. Syndrome ofthe month pure hereditary spastic paraplegia ncbi. Clinically, they present with lower limb spasticity and weakness. There has only been one postmortem examination described. Molecular genetics and gene analysis of hereditary spastic paraplegia hiroyuki ishiura, m. Cognitive impairment and dementia has been reported in autosomal dominant hereditary spastic paraparesis hsp linked to the spg4 locus.
Hereditary spastic paraplegia hsp refers to inherited disorders in which spastic gait is either the only feature or is a major syndrome feature. Pubmed is a searchable database of medical literature and lists journal articles that discuss spastic paraplegia 9. Tropical spastic paraparesis tsp tsp is a disease of the nervous system that causes weakness, stiffness, and muscle spasms of the legs. The pathogenic mechanism, associated clinical features, and imaging abnormalities vary substantially according to the affected gene and differentiating hsp from other genetic diseases associated with spasticity can be challenging. Spastic paraplegia type 2 genetics home reference nih. Molecular genetics and gene analysis of hereditary. Potts paraplegia spinal epidural abscess spinal cord tumors chronic familial spastic paraplegia amyotrophic lateral sclerosis craniovertebral junctional anomalies 16. From the age of 21 years, she became unsteady with dragging of her left leg. Clinicoinvestigative profile of hereditary spastic paraplegia in. Pdf hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited. To characterize the spasticity and range of motion rom in patients with hereditary spastic paraplegia hsp and to correlate these parameters with walking. Researchers estimate that some 90 different types of hsp exist.
The disease was investigated precisely but still clinicians often make incorrect or late diagnosis. Lathyrism tocp arsenic contrast media used in radiology intra thecal penicillin spinal anesthesia smonsub acute myelo opotic neuropathy long term enteroquinol, large dose. A family with spg4hsp known to have a deletion of exon 17 in the spastin gene. Early in the disease course, there may be mild gait difficulties and stiffness. The term double hemiplegia is applied if the arms are worse than the legs. Hereditary spastic paraplegia gene discovered the lancet. The term hereditary spastic paraplegia hsp embraces a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity and weakness of the lower limbs. Xlinked spastic paraplegia and pelizaeusmerzbacher. From ghr l1 syndrome describes a group of conditions that primarily affect the nervous system and occur almost exclusively in males. Clinical features and management of hereditary spastic. Hsp is also known as hereditary spastic paraparesis, familial spastic paraplegia, french settlement disease, strumpell disease, or strumpelllorrain disease.
Hereditary spastic paraplegia hsp refers to a group of familial diseases that are characterized by progressive degeneration of the corticospinal tracts. Pdf autosomal dominant gch1 mutations causing spastic. A 39yearold woman presented with progressive leg weakness and spasticity. Italian researchers have discovered that a mitochondrial protein is involved in a form of the neurodegenerative disease, hereditary spastic paraplegia hsp. The differential diagnosis of progressive spastic paraplegia strongly depends on the age at onset, as well as the accompanying clinical features, possible abnormalities on mri, and family. Vs was applied to the lower limb muscles on the left, more spastic, side with an ordinary vibrator. The aim of this study was to provide an evidential overview. The plp1 gene provides instructions for producing proteolipid protein 1 and a modified version isoform of proteolipid protein 1, called dm20. Tropical spastic paraparesis an overview sciencedirect. Hereditary spastic paraplegia is not associated with c9orf72. Hereditary spastic paraplegia hsp, also known as familial spastic paraparesis, is a term used for a group of inherited diseases that affect the upper motor neurons traveling from the brain. Hereditary spastic paraplegia an overview sciencedirect topics.
521 1298 737 124 327 910 838 1437 921 617 1205 1369 992 202 981 725 1530 1324 1491 652 1378 1231 1434 568 1297 337 1231 653 373 926 1353 722 1220 401 130 116 1289 16 1143 1382 291 186 784 1192 868 1260 158